Cataracts

Gene: PEX7

Green List (high evidence)

PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 24 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

A more severe phenotype with microphthalmia and neurodevelopmental abnormalities may be assocaited with AR inheritance (Bidonost et al (2006) Invest. Ophthal. Vis. Sci. 47: 1274-1280.
Created: 14 Jun 2016, 8:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1 and for Refsum Disease (include congenital cataract/cataract as a phenotype, respectively).
Created: 29 Apr 2016, 1:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease;Peroxisome biogenesis disorder

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1; Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1; Refsum disease

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PEX7 was added to Cataractspanel. Sources: UKGTN